Albinism-deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.

Hermansky-Pudlak Syndrome: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells (lysosomal ceroid storage).

Hermansky-Pudlak syndrome type 2: A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect, an accumulation of a waxy substance in cells (lysosomal ceroid storage) and immunodeficiency. HPS type 2 differs from type 1 in that it also involves immunodeficiency due to congenital neutropenia.

Hypopigmentation/Deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.

Oculocutaneous albinism: A group of inherited disorders characterized by varying degrees of lack of pigmentation in the skin, eyes and hair.

Oculocutaneous albinism type 1: A rare inherited disorder characterized by complete lack of pigmentation in the skin, eyes and hair. Type 1A involves a complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - type B involves only a partial absence of tyrosinase. It is caused by mutations in the TYR gene.

Oculocutaneous albinism, type 2: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 2 has normal levels of active tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - the fairness is caused by a different genetic mutation (OCA2 gene).

Oculocutaneous albinism, type 3: A rare inherited disorder characterized by slightly reduced pigmentation in the skin, eyes and hair (due to a genetic mutation of the TYRP1 gene). Type 3 is characterized by some pigmentation of the iris despite the complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. Type 3 also has the milder eye problems than the other types.

Oculocutaneous albinism, type 4: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 4 involves a normal levels of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. However, albinism is caused by mutation of the MATP gene (membrane associated transporter protein).

Rufous oculocutaneous albinism: A rare inherited disorder characterized by abnormal pigmentation balance in the skin, eyes and hair (due to a genetic mutation of the MC1R gene). Tyrosinase, which is needed for the production of melanin which gives the skin, hair and eyes their color, is present but but a pigmentation imbalance causes a distinctive reddish coloration to the skin and hair.

Tietz Albinism-Deafness Syndrome: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.

Tietz syndrome: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.

Uncombable hair syndrome: A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.